Search results

• Past Events

  Past Events

• International meeting on Rubinstein-Taybi Syndrome

  Event

• Expanded phenotype of RHOA-related mosaic neuroectodermal disorder       

  RHOA

  Call for Collaboration

• International meeting on Rubinstein-Taybi Syndrome

  International meeting on Rubinstein-Taybi Syndrome

• RASopathies associated with prenatal hypertrophic cardiomyopathy     

  Noonan

  Call for Collaboration

• Expanding the phenotypic and genotypic spectrum of NAA15-related disorder

  NAA15

  Call for Collaboration

• Joint webinar: Williams-Beuren Syndrome, A focus on long-term patient care

  Educational Resource

• Expanding the phenotype of SLC12A2 syndrome

  SLC12A2

  Call for Collaboration

• PTEN In Children

  PTEN

  Call for Collaboration

• AUTS2 syndrome: defining genotype-phenotype correlation

  AUTS2

  Call for Collaboration